Canonical Allele Identifier: CA280568546

Gene: STX1B

Linked Data

• dbSNP Id: rs945862120
• MyVariant Identifiers: chr16:g.31004538C>G (hg19) ; chr16:g.30993217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993217C>G , CM000678.2:g.30993217C>G	GRCh38
NC_000016.9:g.31004538C>G , CM000678.1:g.31004538C>G	GRCh37
NC_000016.8:g.30912039C>G	NCBI36
NG_041829.1:g.22292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.699G>C MANE Select	ENSP00000215095.5:p.Glu233Asp
ENST00000565419.2:c.699G>C	ENSP00000455899.1:p.Glu233Asp
ENST00000215095.9:c.699G>C	ENSP00000215095.5:p.Glu233Asp
ENST00000565419.1:c.699G>C	ENSP00000455899.1:p.Glu233Asp
ENST00000569638.5:c.447G>C	ENSP00000457067.1:p.Glu149Asp
NM_052874.4:c.699G>C	NP_443106.1:p.Glu233Asp
XM_017022893.1:c.681G>C	XP_016878382.1:p.Glu227Asp
NM_052874.5:c.699G>C MANE Select	NP_443106.1:p.Glu233Asp